title: B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
abstract: Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of α-dystroglycan. They include disease entities such a Walker-Warburg syndrome, muscle-eye-brain disease and various other clinical phenotypes. Different genes involved in glycosylation of α-dystroglycan are associated with these dystroglycanopathies. We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels. Immunhistochemistry of skeletal muscle revealed reduced glycosylated α-dystroglycan. Magnetic resonance imaging of the brain at 3.5 years of age showed increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical cerebellar cysts. By whole exome sequencing, the patient was identified to be compound heterozygous for a one-base duplication and a missense mutation in the gene B3GALNT2 (β-1,3-N-acetylgalactosaminyltransferase 2; B3GalNAc-T2). This patient showed a milder phenotype than previously described patients with mutations in the B3GALNT2 gene.
authors.affiliation: Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
authors.forename: Carola
authors.initials: C
authors.lastname: Hedberg
authors.affiliation: Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
authors.forename: Anders
authors.initials: A
authors.lastname: Oldfors
authors.affiliation: Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.
authors.forename: Niklas
authors.initials: N
authors.lastname: Darin
mesh_terms: D001706:Biopsy; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: C000594712:B3GALNT2 protein, human; D017350:N-Acetylgalactosaminyltransferases; D003402:Creatine Kinase